Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Guillard, Mailys; Wada, Yoshinao; Hansikova, Hana; Yuasa, Isao; Vesela, Katerina; Ondruskova, Nina; Kadoya, Machiko; Janssen, Alice; Van den Heuvel, Lambertus P W J; Morava, Eva; Zeman, Jiri; Wevers, Ron A; Lefeber, Dirk J

Guillard, Mailys; Wada, Yoshinao; Hansikova, Hana; Yuasa, Isao; Vesela, Katerina; Ondruskova, Nina; Kadoya, Machiko; Janssen, Alice; Van den Heuvel, Lambertus P W J; Morava, Eva; Zeman, Jiri; Wevers, Ron A; Lefeber, Dirk J.

Affiliation

Guillard M; Institute for Genetic and Metabolic Disease, Department of Laboratory Medicine / Department of Neurolog, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.

J Inherit Metab Dis ; 34(4): 901-6, 2011 Aug.

Article in En | MEDLINE | ID: mdl-21431619

Subject(s)

Congenital Disorders of Glycosylation/diagnosis; Transferrin/genetics; Transferrin/metabolism; Catalytic Domain/genetics; Child; Congenital Disorders of Glycosylation/genetics; Congenital Disorders of Glycosylation/metabolism; Glycosylation; Humans; Isoelectric Focusing; Male; Models, Biological; Mutation/physiology; Protein Processing, Post-Translational/genetics; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin/chemistry

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transferrin / Congenital Disorders of Glycosylation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2011 Document type: Article Affiliation country: Netherlands

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